OTOL1_HUMAN
ID OTOL1_HUMAN Reviewed; 477 AA.
AC A6NHN0;
DT 29-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 24-JUL-2007, sequence version 1.
DT 03-AUG-2022, entry version 108.
DE RecName: Full=Otolin-1 {ECO:0000305};
DE Flags: Precursor;
GN Name=OTOL1 {ECO:0000312|HGNC:HGNC:34071};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
CC -!- FUNCTION: Collagen-like protein specifically expressed in the inner
CC ear, which provides an organic scaffold for otoconia, a calcium
CC carbonate structure in the saccule and utricle of the ear. Acts as a
CC scaffold for biomineralization: sequesters calcium and forms
CC interconnecting fibrils between otoconia that are incorporated into the
CC calcium crystal structure. Together with OC90, modulates calcite
CC crystal morphology and growth kinetics. {ECO:0000250|UniProtKB:Q4ZJM7}.
CC -!- SUBUNIT: Homooligomer; disulfide-linked; probably forms homotrimers.
CC Interacts with OC90. Interacts with CBLN1.
CC {ECO:0000250|UniProtKB:Q4ZJM7}.
CC -!- SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular
CC matrix {ECO:0000250|UniProtKB:Q4ZJM7}. Note=Localized in both the
CC surrounding otoconial matrix and otoconia.
CC {ECO:0000250|UniProtKB:Q4ZJM7}.
CC -!- DOMAIN: The C1q domain mediates calcium-binding.
CC {ECO:0000250|UniProtKB:Q4ZJM7}.
CC -!- SIMILARITY: Belongs to the OTOL1 family. {ECO:0000305}.
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DR EMBL; AC104471; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS46948.1; -.
DR RefSeq; NP_001073909.1; NM_001080440.1.
DR AlphaFoldDB; A6NHN0; -.
DR SMR; A6NHN0; -.
DR BioGRID; 126273; 2.
DR IntAct; A6NHN0; 1.
DR STRING; 9606.ENSP00000330808; -.
DR GlyGen; A6NHN0; 4 sites.
DR iPTMnet; A6NHN0; -.
DR PhosphoSitePlus; A6NHN0; -.
DR BioMuta; OTOL1; -.
DR jPOST; A6NHN0; -.
DR MassIVE; A6NHN0; -.
DR PaxDb; A6NHN0; -.
DR PeptideAtlas; A6NHN0; -.
DR PRIDE; A6NHN0; -.
DR Antibodypedia; 50531; 67 antibodies from 15 providers.
DR DNASU; 131149; -.
DR Ensembl; ENST00000327928.4; ENSP00000330808.4; ENSG00000182447.4.
DR GeneID; 131149; -.
DR KEGG; hsa:131149; -.
DR MANE-Select; ENST00000327928.4; ENSP00000330808.4; NM_001080440.1; NP_001073909.1.
DR UCSC; uc011bpb.2; human.
DR CTD; 131149; -.
DR DisGeNET; 131149; -.
DR GeneCards; OTOL1; -.
DR HGNC; HGNC:34071; OTOL1.
DR HPA; ENSG00000182447; Not detected.
DR neXtProt; NX_A6NHN0; -.
DR OpenTargets; ENSG00000182447; -.
DR VEuPathDB; HostDB:ENSG00000182447; -.
DR eggNOG; ENOG502QRPC; Eukaryota.
DR GeneTree; ENSGT00940000155435; -.
DR HOGENOM; CLU_001074_0_0_1; -.
DR InParanoid; A6NHN0; -.
DR OMA; YNDQGSY; -.
DR OrthoDB; 1258047at2759; -.
DR PhylomeDB; A6NHN0; -.
DR TreeFam; TF334029; -.
DR PathwayCommons; A6NHN0; -.
DR SignaLink; A6NHN0; -.
DR BioGRID-ORCS; 131149; 10 hits in 1063 CRISPR screens.
DR GenomeRNAi; 131149; -.
DR Pharos; A6NHN0; Tbio.
DR PRO; PR:A6NHN0; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; A6NHN0; protein.
DR Bgee; ENSG00000182447; Expressed in prefrontal cortex and 4 other tissues.
DR GO; GO:0005587; C:collagen type IV trimer; IBA:GO_Central.
DR GO; GO:0031012; C:extracellular matrix; IBA:GO_Central.
DR GO; GO:0005576; C:extracellular region; ISS:UniProtKB.
DR GO; GO:0005615; C:extracellular space; IBA:GO_Central.
DR GO; GO:0005509; F:calcium ion binding; ISS:UniProtKB.
DR GO; GO:0005201; F:extracellular matrix structural constituent; IBA:GO_Central.
DR GO; GO:0038063; P:collagen-activated tyrosine kinase receptor signaling pathway; IBA:GO_Central.
DR GO; GO:0030198; P:extracellular matrix organization; IBA:GO_Central.
DR GO; GO:0045299; P:otolith mineralization; ISS:UniProtKB.
DR GO; GO:0051260; P:protein homooligomerization; ISS:UniProtKB.
DR Gene3D; 2.60.120.40; -; 1.
DR InterPro; IPR001073; C1q_dom.
DR InterPro; IPR008160; Collagen.
DR InterPro; IPR008983; Tumour_necrosis_fac-like_dom.
DR Pfam; PF00386; C1q; 1.
DR Pfam; PF01391; Collagen; 4.
DR PRINTS; PR00007; COMPLEMNTC1Q.
DR SMART; SM00110; C1Q; 1.
DR SUPFAM; SSF49842; SSF49842; 1.
DR PROSITE; PS50871; C1Q; 1.
PE 3: Inferred from homology;
KW Calcium; Collagen; Disulfide bond; Extracellular matrix; Glycoprotein;
KW Hydroxylation; Metal-binding; Reference proteome; Repeat; Secreted; Signal.
FT SIGNAL 1..23
FT /evidence="ECO:0000255"
FT CHAIN 24..477
FT /note="Otolin-1"
FT /id="PRO_0000332215"
FT DOMAIN 116..175
FT /note="Collagen-like 1"
FT DOMAIN 209..268
FT /note="Collagen-like 2"
FT DOMAIN 278..337
FT /note="Collagen-like 3"
FT DOMAIN 338..473
FT /note="C1q"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00368"
FT REGION 28..55
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 111..337
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 29..43
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 227..272
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 133
FT /note="Hydroxyproline"
FT /evidence="ECO:0000250|UniProtKB:Q4ZJM7"
FT MOD_RES 136
FT /note="Hydroxyproline"
FT /evidence="ECO:0000250|UniProtKB:Q4ZJM7"
FT MOD_RES 163
FT /note="Hydroxyproline"
FT /evidence="ECO:0000250|UniProtKB:Q4ZJM7"
FT MOD_RES 166
FT /note="Hydroxyproline"
FT /evidence="ECO:0000250|UniProtKB:Q4ZJM7"
FT MOD_RES 169
FT /note="Hydroxyproline"
FT /evidence="ECO:0000250|UniProtKB:Q4ZJM7"
FT MOD_RES 178
FT /note="5-hydroxylysine"
FT /evidence="ECO:0000250|UniProtKB:Q4ZJM7"
FT MOD_RES 223
FT /note="Hydroxyproline"
FT /evidence="ECO:0000250|UniProtKB:Q4ZJM7"
FT MOD_RES 283
FT /note="Hydroxyproline"
FT /evidence="ECO:0000250|UniProtKB:Q4ZJM7"
FT MOD_RES 301
FT /note="Hydroxyproline"
FT /evidence="ECO:0000250|UniProtKB:Q4ZJM7"
FT MOD_RES 310
FT /note="5-hydroxylysine"
FT /evidence="ECO:0000250|UniProtKB:Q4ZJM7"
FT CARBOHYD 178
FT /note="O-linked (Gal...) hydroxylysine"
FT /evidence="ECO:0000250|UniProtKB:Q4ZJM7"
FT CARBOHYD 202
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 310
FT /note="O-linked (Gal...) hydroxylysine"
FT /evidence="ECO:0000250|UniProtKB:Q4ZJM7"
FT CARBOHYD 381
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VARIANT 470
FT /note="E -> A (in dbSNP:rs3921595)"
FT /id="VAR_042975"
SQ SEQUENCE 477 AA; 49422 MW; E4C870FA60584762 CRC64;
MWMFSWLCAI LIILAIAGMN TIAKTTPHTK FTKKSEEREM PKGLKPSSGP PPEEEETLFT
EMAEMAEPIT KPSALDSVFG TATLSPFENF TLDPADFFLN CCDCCSPVPG QKGEPGETGQ
PGPKGEAGNL GIPGPPGVVG PQGPRGYKGE KGLKGERGDQ GVPGYPGKPG AQGEPGPKGD
KGNIGLGGVK GQKGSKGDTC GNCTKGEKGD QGAMGSPGLH GGPGAKGEKG EMGEKGEMGD
KGCCGDSGER GGKGQKGEGG MKGEKGSKGD SGMEGKSGRN GLPGAKGDPG IKGEKGELGP
PGLLGPTGPK GDIGNKGVRG PTGKKGSRGF KGSKGELARV PRSAFSAGLS KPFPPPNIPI
KFEKILYNDQ GNYSPVTGKF NCSIPGTYVF SYHITVRGRP ARISLVAQNK KQFKSRETLY
GQEIDQASLL VILKLSAGDQ VWLEVSKDWN GVYVSAEDDS IFTGFLLYPE ETSGISP
